Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease, is a devastating condition in which motor neuron degeneration causes progressive loss of movement and muscle tone, leading to death. Overcoming the limited success of previous models, a report published in Disease Models & Mechanisms (DMM), dmm.biologists.org describes how neurons can be derived from human stem cells, and engineered to mimic inherited ALS.
Researchers at the University of California Los Angeles developed an optimized protocol to generate motor neurons from human embryonic stem cells (ES cells), which express normal or mutant forms of the SOD-1 gene, which is linked to inherited, familial ALS.
Resulting cells exhibit hallmark characteristics of motor nerve cells, and neurons expressing mutant SOD-1 display abnormalities typical of ALS. Defects included shortened cell projections and a reduced life span compared to cells containing the normal SOD-1 gene.
This human cell-derived model of ALS provides a new method of studying this disease and testing novel therapeutics. This is especially helpful as only one drug is approved to help slow ALS progression, and animal models currently used in drug development have had limited success.
Additionally, this research may aid other gene-linked neurodegenerative diseases, as they too may benefit from studies in a human cell-derived model.